| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.109 | MED27 | Bryony Thompson Marked gene: MED27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.109 | MED27 | Bryony Thompson Gene: med27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.109 | MED27 | Bryony Thompson Classified gene: MED27 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.109 | MED27 | Bryony Thompson Gene: med27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.108 | MED27 |
Bryony Thompson gene: MED27 was added gene: MED27 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 41017421; 37517035 Phenotypes for gene: MED27 were set to neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MONDO:0859137 Review for gene: MED27 was set to GREEN Added comment: PMID 41017421 and PMID 37517035 together report a neurodevelopmental disorder with spasticity, cataracts, cerebellar hypoplasia/ataxia, intellectual disability and developmental delay caused by biallelic MED27 variants. Across the two studies 57 affected individuals from up to 60 families (38 independent origins after collapsing recurrent variants) are described, with core features of gait ataxia, cataracts, spasticity and cerebellar atrophy. Sources: Literature |
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